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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH. Parolin Schnekenberg R, et al. Among authors: miller jw. Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16. Brain. 2015. PMID: 25981959 Free PMC article.
SPG7 mutations are a common cause of undiagnosed ataxia.
Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Németh A, Chinnery PF. Pfeffer G, et al. Among authors: miller j. Neurology. 2015 Mar 17;84(11):1174-6. doi: 10.1212/WNL.0000000000001369. Epub 2015 Feb 13. Neurology. 2015. PMID: 25681447 Free PMC article. No abstract available.
Genetic susceptibility to acute viral bronchiolitis.
Pasanen A, Karjalainen MK, Korppi M, Hallman M, Rämet M; Research Project FinnGen. Pasanen A, et al. J Infect Dis. 2024 Sep 20:jiae467. doi: 10.1093/infdis/jiae467. Online ahead of print. J Infect Dis. 2024. PMID: 39299705
Cell-Based Covalent-Capture Deubiquitinase Assay for Inhibitor Discovery.
Doleschal MN, Miller J, Jain S, Zakharov AV, Rai G, Simeonov A, Baljinnyam B, Zhuang Z. Doleschal MN, et al. Among authors: miller j. ACS Pharmacol Transl Sci. 2024 Aug 16;7(9):2827-2839. doi: 10.1021/acsptsci.4c00331. eCollection 2024 Sep 13. ACS Pharmacol Transl Sci. 2024. PMID: 39296272
Design of a Tool Capable of Assessing Environmental Sociocultural Physical Factors Influencing Women's Decisions on When and Where to Toilet Within Real-World Settings: Protocol for the Build and Usability Testing of a Mobile App for Use by Community-Dwelling Women.
Miller JM, Wyman JF, An L, Chu H, Fok CS, Lavender M, Lewis CE, Markland AD, Rickey LM, Sheng Y, Sutcliffe S, Low LK, Mueller ER; Prevention of Lower Urinary Tract Symptoms (PLUS) Research Consortium. Miller JM, et al. JMIR Res Protoc. 2024 Sep 18;13:e54046. doi: 10.2196/54046. JMIR Res Protoc. 2024. PMID: 39293052 Free article.
Intratumoral radiation dose heterogeneity augments antitumor immunity in mice and primes responses to checkpoint blockade.
Jagodinsky JC, Vera JM, Jin WJ, Shea AG, Clark PA, Sriramaneni RN, Havighurst TC, Chakravarthy I, Allawi RH, Kim K, Harari PM, Sondel PM, Newton MA, Crittenden MR, Gough MJ, Miller JR, Ong IM, Morris ZS. Jagodinsky JC, et al. Among authors: miller jr. Sci Transl Med. 2024 Sep 18;16(765):eadk0642. doi: 10.1126/scitranslmed.adk0642. Epub 2024 Sep 18. Sci Transl Med. 2024. PMID: 39292804
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS. Ochoa S, et al. Among authors: miller jl. Sci Transl Med. 2024 Sep 18;16(765):eadk0845. doi: 10.1126/scitranslmed.adk0845. Epub 2024 Sep 18. Sci Transl Med. 2024. PMID: 39292801
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